List of variants in gene SPTBN2 studied for Autosomal recessive cerebellar ataxia

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=)	rs143083152	0.00100
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)	rs558572111	0.00011
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg)	rs190532690	0.00010
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His)	rs200016211	0.00005
NM_006946.4(SPTBN2):c.3430C>T (p.Arg1144Ter)	rs1402216317

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